Literature DB >> 18500243

Development of a large-scale de-identified DNA biobank to enable personalized medicine.

D M Roden1, J M Pulley, M A Basford, G R Bernard, E W Clayton, J R Balser, D R Masys.   

Abstract

Our objective was to develop a DNA biobank linked to phenotypic data derived from an electronic medical record (EMR) system. An "opt-out" model was implemented after significant review and revision. The plan included (i) development and maintenance of a de-identified mirror image of the EMR, namely, the "synthetic derivative" (SD) and (ii) DNA extracted from discarded blood samples and linked to the SD. Surveys of patients indicated general acceptance of the concept, with only a minority ( approximately 5%) opposing it. As a result, mechanisms to facilitate opt-out included publicity and revision of a standard "consent to treatment" form. Algorithms for sample handling and procedures for de-identification were developed and validated in order to ensure acceptable error rates (<0.3 and <0.1%, respectively). The rate of sample accrual is 700-900 samples/week. The advantages of this approach are the rate of sample acquisition and the diversity of phenotypes based on EMRs.

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Year:  2008        PMID: 18500243      PMCID: PMC3763939          DOI: 10.1038/clpt.2008.89

Source DB:  PubMed          Journal:  Clin Pharmacol Ther        ISSN: 0009-9236            Impact factor:   6.875


  40 in total

Review 1.  Ethical, legal, and social implications of genomic medicine.

Authors:  Ellen Wright Clayton
Journal:  N Engl J Med       Date:  2003-08-07       Impact factor: 91.245

2.  Recruiting patients to medical research: double blind randomised trial of "opt-in" versus "opt-out" strategies.

Authors:  Cornelia Junghans; Gene Feder; Harry Hemingway; Adam Timmis; Melvyn Jones
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3.  An evaluation of the current state of genomic data privacy protection technology and a roadmap for the future.

Authors:  Bradley A Malin
Journal:  J Am Med Inform Assoc       Date:  2004-10-18       Impact factor: 4.497

Review 4.  Overcoming barriers to recruitment in health research.

Authors:  Jenny Hewison; Andy Haines
Journal:  BMJ       Date:  2006-08-05

5.  Personalized medicine in the era of genomics.

Authors:  Wylie Burke; Bruce M Psaty
Journal:  JAMA       Date:  2007-10-10       Impact factor: 56.272

6.  Genetic control of dicumarol levels in man.

Authors:  E S Vesell; J G Page
Journal:  J Clin Invest       Date:  1968-12       Impact factor: 14.808

7.  Complement factor H variant increases the risk of age-related macular degeneration.

Authors:  Jonathan L Haines; Michael A Hauser; Silke Schmidt; William K Scott; Lana M Olson; Paul Gallins; Kylee L Spencer; Shu Ying Kwan; Maher Noureddine; John R Gilbert; Nathalie Schnetz-Boutaud; Anita Agarwal; Eric A Postel; Margaret A Pericak-Vance
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

8.  Use of an electronic medical record for the identification of research subjects with diabetes mellitus.

Authors:  Russell A Wilke; Richard L Berg; Peggy Peissig; Terrie Kitchner; Bozana Sijercic; Catherine A McCarty; Daniel J McCarty
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9.  Population genomics: laying the groundwork for genetic disease modeling and targeting.

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Journal:  Clin Chem Lab Med       Date:  1998-08       Impact factor: 3.694

10.  Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.

Authors:  Eleftheria Zeggini; Michael N Weedon; Cecilia M Lindgren; Timothy M Frayling; Katherine S Elliott; Hana Lango; Nicholas J Timpson; John R B Perry; Nigel W Rayner; Rachel M Freathy; Jeffrey C Barrett; Beverley Shields; Andrew P Morris; Sian Ellard; Christopher J Groves; Lorna W Harries; Jonathan L Marchini; Katharine R Owen; Beatrice Knight; Lon R Cardon; Mark Walker; Graham A Hitman; Andrew D Morris; Alex S F Doney; Mark I McCarthy; Andrew T Hattersley
Journal:  Science       Date:  2007-04-26       Impact factor: 47.728

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  493 in total

1.  Ethical and practical challenges of sharing data from genome-wide association studies: the eMERGE Consortium experience.

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Journal:  Genome Res       Date:  2011-06-01       Impact factor: 9.043

2.  Detecting abbreviations in discharge summaries using machine learning methods.

Authors:  Yonghui Wu; S Trent Rosenbloom; Joshua C Denny; Randolph A Miller; Subramani Mani; Dario A Giuse; Hua Xu
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3.  A translational engine at the national scale: informatics for integrating biology and the bedside.

Authors:  Isaac S Kohane; Susanne E Churchill; Shawn N Murphy
Journal:  J Am Med Inform Assoc       Date:  2011-11-10       Impact factor: 4.497

4.  Disclosing pathogenic genetic variants to research participants: quantifying an emerging ethical responsibility.

Authors:  Christopher A Cassa; Sarah K Savage; Patrick L Taylor; Robert C Green; Amy L McGuire; Kenneth D Mandl
Journal:  Genome Res       Date:  2012-01-06       Impact factor: 9.043

Review 5.  Strategies for de-identification and anonymization of electronic health record data for use in multicenter research studies.

Authors:  Clete A Kushida; Deborah A Nichols; Rik Jadrnicek; Ric Miller; James K Walsh; Kara Griffin
Journal:  Med Care       Date:  2012-07       Impact factor: 2.983

6.  Research ethics in the era of personalized medicine: updating science's contract with society.

Authors:  Eric M Meslin; Mildred K Cho
Journal:  Public Health Genomics       Date:  2010-08-31       Impact factor: 2.000

7.  caTIES: a grid based system for coding and retrieval of surgical pathology reports and tissue specimens in support of translational research.

Authors:  Rebecca S Crowley; Melissa Castine; Kevin Mitchell; Girish Chavan; Tara McSherry; Michael Feldman
Journal:  J Am Med Inform Assoc       Date:  2010 May-Jun       Impact factor: 4.497

8.  Proven processes: The Vanderbilt Institute for clinical and translational research .

Authors:  Jill M Pulley; Gordon R Bernard
Journal:  Clin Transl Sci       Date:  2009-06       Impact factor: 4.689

9.  Local ancestry transitions modify snp-trait associations.

Authors:  Alexandra E Fish; Dana C Crawford; John A Capra; William S Bush
Journal:  Pac Symp Biocomput       Date:  2018

Review 10.  Biobanks and personalized medicine.

Authors:  J E Olson; S J Bielinski; E Ryu; E M Winkler; P Y Takahashi; J Pathak; J R Cerhan
Journal:  Clin Genet       Date:  2014-03-27       Impact factor: 4.438

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